Reviewed,
UniProtKB/Swiss-Prot P37058 (DHB3_HUMAN)
Last modified
November 25, 2008.
Version 84.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Testosterone 17-beta-dehydrogenase 3 EC=1.1.1.64 Alternative name(s): Testicular 17-beta-hydroxysteroid dehydrogenase 17-beta-HSD 3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 310 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH. |
| Catalytic activity | Testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH. |
| Pathway | |
| Tissue specificity | Testis. |
| Involvement in disease | Defects in HSD17B3 are the cause of male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]. These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place. |
| Sequence similarities | Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. |
Ontologies
Keywords | |
|---|---|
| Biological process | Lipid synthesis Steroid biosynthesis |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Pseudohermaphroditism |
| Ligand | NADP |
| Molecular function | Oxidoreductase |
Gene Ontology (GO) | |
| Biological process | male genitalia development Ref.1 Traceable author statement. Source: ProtInc oxidation reductionInferred from electronic annotation. Source: UniProtKB-KW sex determinationInferred from electronic annotation. Source: UniProtKB-KW steroid biosynthetic processInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | microsome Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | binding Inferred from electronic annotation. Source: InterPro testosterone 17-beta-dehydrogenase (NADP+) activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 310 | 310 | Testosterone 17-beta-dehydrogenase 3 | PRO_0000054573 | |||||
Regions | |||||||||
| Nucleotide binding | 48 – 77 | 30 | NADP By similarity | ||||||
Sites | |||||||||
| Active site | 198 | 1 | Proton acceptor By similarity | ||||||
| Binding site | 185 | 1 | Substrate By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 31 | 1 | V → I: dbSNP rs2066480. | VAR_014870 | |||||
| Natural variant | 56 | 1 | A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. | VAR_016067 | |||||
| Natural variant | 65 | 1 | S → L in MPH. | VAR_016068 | |||||
| Natural variant | 80 | 1 | R → Q in MPH; Gaza. | VAR_006953 | |||||
| Natural variant | 80 | 1 | R → W in MPH. | VAR_006954 | |||||
| Natural variant | 130 | 1 | N → S in MPH; Cambridge-1. Complete loss of activity. | VAR_016069 | |||||
| Natural variant | 176 | 1 | Q → P in MPH. | VAR_016070 | |||||
| Natural variant | 203 | 1 | A → V in MPH. | VAR_006955 | |||||
| Natural variant | 205 | 1 | V → E in MPH. | VAR_016071 | |||||
| Natural variant | 208 | 1 | F → I in MPH. | VAR_016072 | |||||
| Natural variant | 215 | 1 | E → D in MPH. | VAR_016203 | |||||
| Natural variant | 232 | 1 | S → L in MPH. | VAR_006956 | |||||
| Natural variant | 235 | 1 | M → V in MPH. | VAR_006957 | |||||
| Natural variant | 268 | 1 | C → Y in MPH; complete loss of activity. | VAR_016073 | |||||
| Natural variant | 282 | 1 | P → L in MPH. | VAR_016074 | |||||
| Natural variant | 289 | 1 | G → S: dbSNP rs2066479. | VAR_014871 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3." Geissler W.M., Davis D.L., Wu L., Bradshaw K.D., Patel S., Mendonca B.B., Elliston K.O., Wilson J.D., Russell D.W., Andersson S. Nat. Genet. 7:34-39(1994) [PubMed: 8075637] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235. Tissue: Testis. |
| [2] | "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Rieder M.J., Livingston R.J., Daniels M.R., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A. Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-31 AND SER-289. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency." Andersson S., Geissler W.M., Wu L., Davis D.L., Grumbach M.M., New M.I., Schwarz H.P., Blethen S.L., Mendonca B.B., Bloise W., Witchel S.F., Cutler G.B. Jr., Griffin J.E., Wilson J.D., Russel D.W. J. Clin. Endocrinol. Metab. 81:130-136(1996) [PubMed: 8550739] [Abstract] Cited for: VARIANTS MPH LEU-65; PRO-176; GLU-205; ILE-208; ASP-215 AND LEU-282. |
| [5] | "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism." Bilbao J.R., Loridan L., Audi L., Gonzalo E., Castano L. Eur. J. Endocrinol. 139:330-333(1998) [PubMed: 9758445] [Abstract] Cited for: VARIANT MPH TRP-80. |
| [6] | "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)." Moghrabi N., Hughes I.A., Dunaif A., Andersson S. J. Clin. Endocrinol. Metab. 83:2855-2860(1998) [PubMed: 9709959] [Abstract] Cited for: VARIANTS MPH THR-56 AND SER-130, VARIANT SER-289. |
| [7] | "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency." Lindqvist A., Hughes I.A., Andersson S. J. Clin. Endocrinol. Metab. 86:921-923(2001) [PubMed: 11158067] [Abstract] Cited for: VARIANT MPH TYR-268. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U05659 mRNA. Translation: AAC50066.1. AY341031 Genomic DNA. Translation: AAP88937.1. BC034281 mRNA. Translation: AAH34281.1. | |
| PIR | S43928. |
| RefSeq | NP_000188.1. |
| UniGene | Hs.477 |
3D structure databases | |
| ModBase | Search... |
Polymorphism databases | |
| NIEHS-SNPs | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000130948. Homo sapiens. [Contig view] |
| GeneID | 3293. |
| KEGG | hsa:3293. |
Organism-specific databases | |
| H-InvDB | HIX0008203. |
| HGNC | HGNC:5212. HSD17B3. |
| HPA | HPA015307. |
| MIM | 264300. phenotype. 605573. gene. |
| Orphanet | 752. 46,XY disorders of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency. |
| PharmGKB | PA29480. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P37058. |
| HOVERGEN | P37058. |
Enzyme and pathway databases | |
| Reactome | REACT_602. Lipid and lipoprotein metabolism. |
Gene expression databases | |
| ArrayExpress | P37058. |
| CleanEx | HS_HSD17B3. |
| GermOnline | ENSG00000130948. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002198. DHase_sc/Rdtase_SDR. IPR002347. Glc/ribitol_DHase. IPR016040. NAD(P)-bd. [Graphical view] |
| Gene3D | G3DSA:3.40.50.720. NAD(P)-bd. 1 hit. |
| PANTHER | PTHR19410. ADH_short_C2. 1 hit. |
| Pfam | PF00106. adh_short. 1 hit. [Graphical view] |
| PRINTS | PR00081. GDHRDH. PR00080. SDRFAMILY. |
| PROSITE | PS00061. ADH_SHORT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. |
| NextBio | 13063. |
| SOURCE | Search... |
Entry information
| Entry name | DHB3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P37058 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


